Context-dependent variant interpretation from Mendelian disease to genetic predisposition: a proof-of-concept using LPL
Qi Yang, Wen‐Bin Zou, Na Pu, Yi Li, Yuepeng Hu, Yuan‐Chen Wang, Xin Liu, Emmanuelle Génin, Emmanuelle Masson, Jiucun Wang, Claude Férec, D.N. Cooper, Weiqin N. Li, Jian‐Min Chen
This paper proposes a context-dependent framework for variant interpretation by analyzing LPL loss-of-function variants, showing how residual activity levels influence clinical outcomes.
bioRxiv · Aug 20, 2026 · PreprintGenetics